LP184366-5
MBL2 gene
Active
Descriptions
Mutations of the MBL2 gene can lead to mannose-binding lectin deficiency. With decreased levels of mannose-binding lectin, patients are susceptible to recurrent infections. However, researchers believe that a number of factors, including other genetic and environmental factors, are involved in the development of mannose-binding lectin deficiency. Source: Genetic Home Reference, National Library of Medicine , MBL2 gene
The MBL2 gene (mannose-binding lectin (protein C) 2, soluble) [HGNC Gene ID:6922] is located on chromosome 10q11.2. This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4153] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- MBL2 gene
- Part Display Name
- MBL2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-07-09
- Construct for LOINC Short Name
- MBL2
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen MBL2 |
| zh-CN | Chinese (China) | MBL2 基因 Synonyms: 甘露聚糖结合凝集素 (蛋白 C) 2, 可溶性; |
| it-IT | Italian (Italy) | MBL2, gene Synonyms: Gene MBL2 |
| tr-TR | Turkish (Turkey) | MBL2 geni |
| nl-NL | Dutch (Netherlands) | MBL2-gen Synonyms: MBL2 gen |
| el-GR | Greek (Greece) | Γονίδιο MBL2 Synonyms: Γονίδιο MBL2 |
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